• Gene id: 85479

Gene Summary

• Gene Symbol: DNAJC5B   Gene   UCSC   Ensembl
• Aliases: CSP-beta
• Gene name: DnaJ heat shock protein family (Hsp40) member C5 beta
• Alternate names: dnaJ homolog subfamily C member 5B, DnaJ (Hsp40) homolog, subfamily C, member 5 beta, beta cysteine string protein, beta-CSP, cysteine string protein beta, cysteine-string protein isoform beta, dnaJ homolog subfamily C member X, testicular tissue protein Li 55,
• Gene location: 8q13.1 (66014977: 66101244)     Exons: 10     NC_000008.11
• Gene summary(Entrez): This gene encodes a member of the DNAJ heat shock protein 40 family of co-chaperone proteins that is characterized by an N-terminal DNAJ domain, a linker region, and a cysteine-rich C-terminal domain. The encoded protein, together with heat shock protein
• OMIM: 613945

Protein Summary

• Protein general information: Q9UF47  
  • Name: DnaJ homolog subfamily C member 5B (Cysteine string protein isoform beta) (CSP beta)
  • Length: 199  
  • Mass: 22496
  • Tissue specificity: Testis specific.
• Sequence:

  MACNIPNQRQRTLSTTGEALYEILGLHKGASNEEIKKTYRKLALKHHPDKNPDDPAATEKFKEINNAHAILTDIS
  KRSIYDKYGSLGLYVAEQFGDENVNTYFMLSSWWAKALFVIVGLLTGCYFCCCLCCCCNCCCGHCRPESSVPEED
  FYVSPEDLEEQIKSDMEKDVDFPVFLQPTNANEKTQLIKEGSRSYCTDS

• Structural information:
  • Protein Domains: (19..8-)
    (/note="J-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00286"-)
  • Interpro: IPR001623  IPR018253  IPR036869  
  • Prosite: PS00636 PS50076
  • CDD: cd06257
  • STRING: ENSP00000276570
• Other Databases: GeneCards:  DNAJC5B  Malacards:  DNAJC5B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016020	membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0016020	membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04141	Protein processing in endoplasmic reticulum

Diseases

Associated diseases	References
Non obstructive azoospermia	MIK: 24012201
Sertoli cell only syndrome	MIK: 23869807
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
24012201	Non obstructive azoospermia			31 (4 controls, 27 cases)	Male infertility	GSE45885 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
23869807	Non obstructive azoospermia, Sertoli cell only syndrome			20 (4 controls, 16 cases)	Male infertility	GSE45887 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R